List of variants in gene combination LOC130005193, SMPD1 reported as pathogenic for Niemann-Pick disease, type A

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.56del (p.Gln19fs)	rs1554933746
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)	rs1554933751
NM_000543.5(SMPD1):c.7del (p.Arg3fs)	rs281860663
NM_000543.5(SMPD1):c.84del (p.Gly29fs)	rs750157176

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